Visualize Submit Comment

Metadata
ID	DOID:0090067
Name	Fuhrmann syndrome
Definition	A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. https://www.ncbi.nlm.nih.gov/pubmed/28917830, https://www.omim.org/entry/228930
Xrefs	GARD:2410 ICD10CM:Q74.8 MESH:C538189 MIM:228930 ORDO:2854
Subsets	DO_rare_slim
Parent Relationships	is_a bone development disease is_a autosomal recessive disease